313 related articles for article (PubMed ID: 28863137)
21. Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion.
Shibata S; Ajiro M; Hagiwara M
Cell Chem Biol; 2020 Dec; 27(12):1472-1482.e6. PubMed ID: 32905759
[TBL] [Abstract][Full Text] [Related]
22. Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus.
Yoshimura K; Chu CS; Crystal RG
J Biol Chem; 1993 Jan; 268(1):686-90. PubMed ID: 7678008
[TBL] [Abstract][Full Text] [Related]
23. Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis.
Zhao X; Liu K; Xu W; Xiao M; Zhang Q; Song J; Chen K; Liu Y; Tian X; Xu KF; Zhang X
Front Med; 2022 Feb; 16(1):150-155. PubMed ID: 34302615
[TBL] [Abstract][Full Text] [Related]
24. Epigenome editing of the CFTR-locus for treatment of cystic fibrosis.
Kabadi AM; Machlin L; Dalal N; Lee RE; McDowell I; Shah NN; Drowley L; Randell SH; Reddy TE
J Cyst Fibros; 2022 Jan; 21(1):164-171. PubMed ID: 34049825
[TBL] [Abstract][Full Text] [Related]
25. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
[TBL] [Abstract][Full Text] [Related]
26. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
27. Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
Pagani F; Buratti E; Stuani C; Baralle FE
J Biol Chem; 2003 Jul; 278(29):26580-8. PubMed ID: 12732620
[TBL] [Abstract][Full Text] [Related]
28. Minigene assay to Evaluate CRISPR/Cas9-based excision of Intronic mutations that Cause Aberrant Splicing in Human Cells.
Sanz DJ; Harrison PT
Bio Protoc; 2019 Jun; 9(11):e3251. PubMed ID: 33654776
[TBL] [Abstract][Full Text] [Related]
29. Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT; Evans TA; Pellicore MJ; Davis-Marcisak EF; Aksit MA; Eastman AC; Patel SU; Paul KC; Osorio DL; Bowling AD; Cotton CU; Raraigh KS; West NE; Merlo CA; Cutting GR; Sharma N
PLoS Genet; 2020 Oct; 16(10):e1009100. PubMed ID: 33085659
[TBL] [Abstract][Full Text] [Related]
30. Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Donegà S; Rogalska ME; Pianigiani G; Igreja S; Amaral MD; Pagani F
Hum Mutat; 2020 Dec; 41(12):2143-2154. PubMed ID: 32935393
[TBL] [Abstract][Full Text] [Related]
31. Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K; Cavusoglu-Doran K; Joynt AT; Santos L; Sanz D; Eastman AC; Merlo C; Langfelder-Schwind E; Scallan MF; Farinha CM; Cutting GR; Sharma N; Harrison PT
Hum Mol Genet; 2023 Nov; 32(23):3237-3248. PubMed ID: 37649273
[TBL] [Abstract][Full Text] [Related]
32. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Chillón M; Dörk T; Casals T; Giménez J; Fonknechten N; Will K; Ramos D; Nunes V; Estivill X
Am J Hum Genet; 1995 Mar; 56(3):623-9. PubMed ID: 7534040
[TBL] [Abstract][Full Text] [Related]
33. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.
Siryani I; Jama M; Rumman N; Marzouqa H; Kannan M; Lyon E; Hindiyeh M
PLoS One; 2015; 10(7):e0133890. PubMed ID: 26208274
[TBL] [Abstract][Full Text] [Related]
34. Targeted Activation of Cystic Fibrosis Transmembrane Conductance Regulator.
Villamizar O; Waters SA; Scott T; Saayman S; Grepo N; Urak R; Davis A; Jaffe A; Morris KV
Mol Ther; 2019 Oct; 27(10):1737-1748. PubMed ID: 31383454
[TBL] [Abstract][Full Text] [Related]
35. Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.
Molinski SV; Gonska T; Huan LJ; Baskin B; Janahi IA; Ray PN; Bear CE
Genet Med; 2014 Aug; 16(8):625-32. PubMed ID: 24556927
[TBL] [Abstract][Full Text] [Related]
36. Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Kerem E
Pediatr Pulmonol; 2005 Sep; 40(3):183-96. PubMed ID: 15880796
[TBL] [Abstract][Full Text] [Related]
37. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
[TBL] [Abstract][Full Text] [Related]
38. Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G.
Dujardin G; Commandeur D; Le Jossic-Corcos C; Ferec C; Corcos L
J Cyst Fibros; 2011 May; 10(3):212-6. PubMed ID: 21317048
[TBL] [Abstract][Full Text] [Related]
39. Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.
Nakakuki M; Fujiki K; Yamamoto A; Ko SB; Yi L; Ishiguro M; Yamaguchi M; Kondo S; Maruyama S; Yanagimoto K; Naruse S; Ishiguro H
J Hum Genet; 2012 Jul; 57(7):427-33. PubMed ID: 22572733
[TBL] [Abstract][Full Text] [Related]
40. Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Bonini J; Varilh J; Raynal C; Thèze C; Beyne E; Audrezet MP; Ferec C; Bienvenu T; Girodon E; Tuffery-Giraud S; Des Georges M; Claustres M; Taulan-Cadars M
Genet Med; 2015 Oct; 17(10):796-806. PubMed ID: 25569440
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]